Genomic variant #0000697193

Chromosome 6
DNA change (genomic) (Relative to hg19 / GRCh37) g.139235868G>A
Reference Copied from the Exome Variant Server
DB-ID REPS1_000048
Frequency 1/13006
Freq. EA 0/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
REPS1 NM_001128617.1 ?/? c.1670C>T r.(?) p.(Pro557Leu)